Disease #02159 (epilepsy, X-linked, with variable learning disabilities and behavior disorders, OMIM:300491)

Official abbreviation -
Name epilepsy, X-linked, with variable learning disabilities and behavior disorders
OMIM ID 300491
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant, X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SYN1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00392294 CMS2401 - - M no (United States) white - - - - epilepsy, X-linked, with variable learning disabilities and behavior disorders Pathogenic variants in the Oligophrenin 1 gene (OPHN1) cause an X-linked intellectual disability syndrome with a phenotype typically consisting of cerebellar hypoplasia, ventriculomegaly, seizures, facial dysmorphism, speech delay and sometimes behavioral difficulties. We describe a male patient with global developmental delay, and cerebellar hypoplasia and other neuroanatomical findings suggestive of a Dandy-Walker malformation. The clinical pontocerebellar hypoplasia sequencing panel revealed a partial duplication from exon 7 to exon 15 in OPHN1, which was maternally inherited. PCR-Sanger sequencing of cDNA showed a truncating frameshift in the OPHN1 transcript. Further, transcript level analysis of OPHN1 showed a 75% reduction in the total expression in the patient in comparison to controls. Presumably this leads to a similar reduction in the level of OPHN1 protein resulting in the observed phenotype. This is the first report of a partial duplication of exons 7-15 in OPHN1 in a patient with strabismus, speech delay, dysmorphic facial features, epilepsy, an autism-like phenotype, and developmental delay. OPHN1 OPHN1 1 1 Dr. Laxmi Kirola
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